Understanding Absence Seizures in Monogenic Epilepsies

Source: Epilepsia

Summary

Researchers studied 160 patients with absence seizures linked to specific genetic causes, known as monogenic epilepsies. The group included more girls than boys, with an average age of 13 years at the last follow-up. The study looked at various factors, including clinical symptoms, brain activity patterns (measured by EEG), and how well patients responded to treatments.

The findings revealed that absence seizures often appeared early in life, sometimes before age 3, and were the only type of seizure in about a third of the patients. Many patients showed unusual features in their EEG readings and had developmental challenges, such as delays in reaching milestones or intellectual disabilities. The study identified several genes associated with these seizures, some of which had not been linked to absence seizures before. Notably, the effectiveness of treatments varied, with certain medications working better for specific genetic types.

This research is important because it highlights the connection between genetic factors and the characteristics of absence seizures, which can help doctors make better diagnoses and treatment plans. However, many patients could not be classified using existing epilepsy guidelines, indicating a need for improved classification systems that include genetic information. The study also points out that while some treatments were effective, there remains a significant number of patients with drug-resistant epilepsy, showing that more research is needed to find better solutions.

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